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临床试验/NCT01308333
NCT01308333已完成不适用

Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia

University Hospital Erlangen1 个研究点 分布在 1 个国家目标入组 38 人开始时间: 2011年4月最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
入组人数
38
试验地点
1

研究概览

简要总结

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a complex genetic disorder characterized by lack of sweat, sebaceous, submucous, Meibomian and mammary glands, sparse hair and eyebrows, and oligodontia. Insufficient function of the respective glands may lead to chronic inflammatory processes in airways and eyes of the affected individuals. The investigators will quantify sweat glands of XLHED patients, assess chronic conjunctivitis and blepharitis in conjunction with quantitative and/or qualitative alterations of lacrimal fluid in these subjects, evaluate lung function and assess chronic inflammatory processes in the airways by NO measurements. The data should provide a basis for genotype-phenotype correlations.

研究设计

研究类型
Observational
观察模型
Cohort
时间视角
Prospective

入排标准

年龄范围
6 Years 至 60 Years(Child, Adult)
性别
Male
接受健康志愿者

入选标准

  • for patients: X-linked hypohidrotic ectodermal dysplasia caused by mutations in the gene EDA
  • written informed consent

排除标准

  • acute respiratory disease
  • acute allergic problem, e.g. allergic coryza
  • implantable electronic devices, e.g. pacemaker

研究者

申办方类型
Other
责任方
Principal Investigator
主要研究者

Prof. Dr. Holm Schneider

Head of the Division of Molecular Pediatrics

University Hospital Erlangen

研究点 (1)

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